کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3038149 1184449 2007 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G
چکیده انگلیسی

We report a unique combination of symptoms in a case of Kabuki syndrome (KS), a multiple malformation/mental retardation syndrome that has a prevalence of 1:32,000 to 1:86,000. The patient was a mentally delayed 12-year-old male with trichrome vitiligo, ectodermal defect, and hypogammaglobulinemia A and G. This unique combination of signs, described here for the first time, indicates that KS comprises multiple deficits that affect not only the brain, but ectoderm-derived structures and the immune system as well. Our report may provide important clues for understanding the pathogenesis of the KS.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Brain and Development - Volume 29, Issue 6, July 2007, Pages 373–376
نویسندگان
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